Canonical Allele Identifier: CA355965044

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997215T>A (hg19) ; chr4:g.1003427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003427T>A , CM000666.2:g.1003427T>A	GRCh38
NC_000004.11:g.997215T>A , CM000666.1:g.997215T>A	GRCh37
NC_000004.10:g.987215T>A	NCBI36
NG_008103.1:g.21431T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1607T>A	ENSP00000247933.4:p.Leu536Ter
ENST00000514224.2:c.1607T>A MANE Select	ENSP00000425081.2:p.Leu536Ter
ENST00000652070.1:n.1663T>A
ENST00000247933.8:c.1607T>A	ENSP00000247933.4:p.Leu536Ter
ENST00000514224.1:c.1211T>A	ENSP00000425081.1:p.Leu404Ter
ENST00000514698.5:n.1714T>A
NM_000203.4:c.1607T>A	NP_000194.2:p.Leu536Ter
NR_110313.1:n.1695T>A
XM_006713882.2:c.1211T>A	XP_006713945.1:p.Leu404Ter
XM_011513459.1:c.1673T>A	XP_011511761.1:p.Leu558Ter
XM_011513460.1:c.1466T>A	XP_011511762.1:p.Leu489Ter
XM_011513461.1:c.1400T>A	XP_011511763.1:p.Leu467Ter
XM_011513462.1:c.1319T>A	XP_011511764.1:p.Leu440Ter
XM_011513463.1:c.1319T>A	XP_011511765.1:p.Leu440Ter
XR_924947.1:n.1863T>A
NM_000203.5:c.1607T>A MANE Select	NP_000194.2:p.Leu536Ter
NM_001363576.1:c.1211T>A	NP_001350505.1:p.Leu404Ter
XM_011513461.2:c.1400T>A	XP_011511763.1:p.Leu467Ter
XM_017008163.1:c.647T>A	XP_016863652.1:p.Leu216Ter